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1.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1017599

RESUMEN

OBJECTIVE To investigate the types and differences of allergens in patients with allergic rhinitis(AR)in Kashgar,Xinjiang,and to provide a research basis for its treatment and prevention.METHODS A retrospective analysis was conducted on the data of AR patients diagnosed in the First People's Hospital of Kashgar from July 2015 to December 2020.The specific IgE(sIgE)results of peripheral venous blood and the types of allergens were analyzed.The patients were grouped according to gender,ethnicity and age,and the differences in allergens among the groups were further analyzed.RESULTS Among the sIgE test results of 528 AR patients,the highest positive rate was for dust mites(246 cases,46.6%),followed by egg,Alternaria alternata/Aspergillus fumigatus/Cladosporium herbarum and so on.There was a statistically significant difference in the dog epithelium allergen positive rate between males and females(P<0.05),and a statistically significant difference in the positive rate of tomato allergen detection among different age groups,while there was no statistically significant difference in the allergen positive rate among different ethnic groups.CONCLUSION Dust mites,egg,and Alternaria alternata/Aspergillus fumigatus/Cladosporium herbarum are the most common allergens in patients with AR in Kashgar.

2.
Dis Markers ; 2018: 5298057, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29692870

RESUMEN

We aim to identify the mutations of deafness genes using massively parallel DNA sequencing in the 12 Uyghur families. SNPscan method was used to screen against the 124 sites in the common deafness genes in probands. Subjects with SNPscan negativity were subject to massively parallel DNA sequencing for the sequencing of 97 genes known to be responsible for hearing loss. Eight families (66.7%) showed biallelic mutations in probands, including MYO15A mutation (6892C>T in J02 family, 9514C>T/7894G>T in J07 family, and 9514C>T in J16 family), MYO7A mutation (1258A>T in J03 family), TMC1 mutation (773G>A in J09 family and 1247T>G/1312G>A in J11 family), and PCDH15 mutation (4658delT in J08 and J13 families). Six novel types of mutation were identified including 6892C>T, 9514C>T/7894G>T, and 9514C>T in MYO15A gene, 1258A>T in MYO7A, 773G>A in TMC1, and 4658delT in PCDH15. The ratio of nonsense mutation and frameshift mutation was comparatively high. All these indicated that the mutation types reported in this study were rare. In conclusion, rare deafness genes were identified in the Uyghur families using massively parallel DNA sequencing, part of which were suggested to be related to the pathogenesis of the disease.


Asunto(s)
Cadherinas/genética , Sordera/genética , Proteínas de la Membrana/genética , Miosinas/genética , Adolescente , Adulto , Proteínas Relacionadas con las Cadherinas , Niño , China , Codón sin Sentido , Femenino , Mutación del Sistema de Lectura , Humanos , Masculino , Linaje
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